5 Simple Techniques For thr777
5 Simple Techniques For thr777
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The influence on the variant on RNA or protein operate, determined by experimental evidence from submitters.
This sequence adjust affects codon 777 of your GAA mRNA. This is a 'silent' modify, which means that it doesn't change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Component of the consensus splice web site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in people today affected with GAA-relevant conditions.
There is not any purposeful proof in ClinVar for this variation. When you've got created useful facts for this variation, you should take into consideration publishing that facts to ClinVar.
The worldwide slight allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this area is indicated in parentheses and should be diverse from your allele represented by this VCV document.
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The combination germline classification for this variant, usually for the monogenic or Mendelian dysfunction as in the ACMG/AMP suggestions, or for response to some drug. This worth is calculated by NCBI based upon details from submitters. Read our guidelines for calculating the aggregate classification.
Read through our regulations for calculating the critique standing. This column also features a thr777 hyperlink to the submitter’s assertion standards if offered, and the gathering approach.
The distributing organization for this submitted (SCV) report. This column also contains the SCV accession and version range, the date this SCV initially appeared in ClinVar, as well as the day that this SCV was very last updated in ClinVar.
These citations are determined by LitVar using the rs variety, so They could contain citations for multiple variant at this place. You should evaluation the LitVar benefits cautiously for your variant of interest. File previous updated Could 19, 2024
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The amount of variants in ClinVar for this gene, including scaled-down variants within the gene and larger CNVs that overlap or fully incorporate the gene.
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Stars symbolize the assessment status, or the extent of critique supporting the submitted (SCV) report. This price is calculated by NCBI determined by knowledge from your submitter.